A5A (p.Ala5Ala) variant of SMARCB1 (Q12824)
A5A (p.Ala5Ala) in SMARCB1 (Q12824) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A5A (p.Ala5Ala) variant details
- p.Ala5Ala
- rs747587445
- gnomAD 22-23787184-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.193
- CADD 15.90
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.0955
- Literature evidence available